Ebstein's malformation of the mitral valve in atrioventricular and ventriculoarterial concordance

Summary Clinical and pathological data of a full-term male newborn with Ebstein's malformation of the mitral valve are reported. Moderate cyanosis and progressive heart failure were present from birth and he died on the fourth day after birth, with clinical evidence of severe aortic coarctation. Necropsy revealed a severely dysplastic mitral valve, with anatomical features of Ebstein's anomaly, in the absence of corrected transposition but associated with aortic coarctation.     

Non-traumatic orbital haemorrhage

Purpose : To establish the incidence of underlying orbital vascular anomalies, the presence of systemic associations and predisposing factors, the natural history and appropriate management of patients with non‐traumatic orbital haemorrhage presenting in an orbital clinic. Methods : The records of 115 patients with a diagnosis of non‐traumatic orbital haemorrhage were reviewed with regard to clinical findings, investigations, management and outcome. Results : Associated orbital vascular malformations were present in 104 patients (90%). Thirteen (11%) had additional or other predisposing factors (childbirth, prolonged headstands, hypertension or coagulopathies). Six patients (5%) had no predisposing factor. Acute onset painful proptosis, associated with lid swelling or a mass, was the most common presentation. Visual acuity was reduced in 37 patients (32%) at presentation. Excluding eight patients (7%) who underwent surgery for optic nerve compression, spontaneous resolution of the haemorrhage was complete in 62%, partial in 27%, while 4% had no resolution. Final visual acuity was reduced in 23 patients (20%). Conclusion : The majority of bleeds are associated with some form of orbital vascular anomaly. Where no such anomaly can be demonstrated a search for an underlying systemic cause should be performed. Haemorrhages in the young were usually localized whereas those in older patients were diffuse. Orbital imaging, with a combination of computed tomography and magnetic resonance imaging, was helpful in the assessment of these lesions. Most bleeds are venous and self‐limiting. Surgical intervention was rarely necessary and should be confined to those with optic nerve compromise or a localized lesion which persists.     

A gastric duplication cyst with an aberrant pancreatic ductal system: report of a case

We report an extremely rare case of a gastric duplication cyst together with an aberrant pancreatic ductal system, which communicated with the stomach rather than the pancreatic ductal system with no evidence of pancreatitis. A 46-year-old woman developed severe abdominal pain after a 10-year history of occasional mild abdominal pain. Upper gastrointestinal barium radiography showed a rigidity of the stomach wall, and gastroscopy revealed a fistula orifice at a greater curvature of the gastric body. Subsequent endoscopic suction of mucous secretion from within the fistula provided immediate pain relief. Abdominal computed tomography and ultrasonography showed a cystic mass contiguous with the stomach wall. Surgical exploration revealed an uncommon anomaly of a gastric duplication cyst with the aberrant pancreatic lobe. The patient made an uneventful recovery and remains well 4 years after surgery. We also herein review ten other similar cases of this uncommon congenital anomaly reported in the literature. Received: August 20, 2001 / Accepted: January 8, 2002     

延安市211例遗传咨询者的细胞遗传学分析

目的探讨遗传病与染色体异常的关系。方法采用外周血淋巴细胞培养，常规法制备染色体标本，G显带，镜下核型分析。结果分析延安市遗传咨询者211例的外周血染色体，发现异常核型19例，占9．00％。其中，常染色体异常14例，性染色体异常5例。结论染色体异常是导致遗传病的重要原因之一，对遗传咨询者进行染色体检查，不仅对优生优育、提高遗传素质有重要意义，而且为遗传病防治提供重要依据。     

Congenital bilateral absence of the common carotid artery and internal carotid artery： a case report and literature review

Absence of the common carotid artery （CCA） and/or internal carotid artery （ICA） is a kind of rare congenital anomaly. This paper reports one patient with bilateral absence of the CCA and ICA who suffered from cerebral infarction. And the relative literatures of the possible cause and collateral circulation were reviewed.     

Bihemispheric sensitivity to sentence anomaly

This study investigated cerebral asymmetries in sensitivity to sentence-level semantic anomaly. To separate the effects of anomalous message processing from those attributable to low sentence constraint, low-constraint sentence-fragment primes were followed by target words presented to the left or right visual fields. When completed by the target word, the sentences represented either normal or anomalous messages; in addition, one-half of the sentence primes contained a word strongly related to the target. Targets presented to both the left and right visual fields were advantaged by the presence of a related word, and disadvantaged by the presence of a semantically anomalous message. Contrary to some previous claims, this result implies that the right hemisphere can construct some message-level interpretations from sentences, such that semantic anomaly is registered, even if finer gradations of sentence constraint are not. This rudimentary integration of word meanings in sentences may provide a scaffolding for right hemisphere discourse processing. In light of these findings, we propose a revised view of left/right hemisphere differences in the processes used to interpret sentence meaning.     

Malposition of catheters during voiding cystourethrography

The aim of this study was to report catheter malposition during voiding cystourethrography. Eight hundred forty-three voiding cystourethrography (265 males and 578 females, aged 1 week to 12 years, mean age 2 years) were performed during a period of 4 years. The conventional standard procedure was applied. In 3 cases with passed history of urinary tract infection the catheter entered directly into the ureter. In all these cases the uretero-vesical reflux was present on the same side where the catheter entered. It appears that insertion of a catheter into the ureter is possible only in the presence of an anomaly or pathology at the vesicoureteric junction. Received: 25 January 2000 Revised: 31 May 2000 Accepted: 5 June 2000     

FISH技术在先天畸形胎儿基因诊断中的应用探讨

目的应用荧光原位杂交技术（FISH）研究先天畸形胎儿中先心病相关基因的表达缺失率。方法选取在北京大学人民医院产前诊断为胎儿先天畸形病例31例，其中心血管畸形16例，非心血管畸形15例。产前经脐带血穿刺留取胎儿血。选取同期正常新生儿12例作为对照组，分娩时留取脐血。应用间期FISH方法，检测畸形胎儿及正常新生儿的TUPLE1基因表达缺失率。结果正常新生儿组与先天畸形胎儿组TUPLE1基因表达缺失率分别为0％和35．48％，两组相比较差异有显著性（P〈0．05）。心血管畸形与非心血管畸形胎儿组的TUPLE1基因表达缺失率分别为43．75％及26．67％，两组比较，差异无显著性（P〉0．05）。结论TUPLE1基因因素是胎儿先天性畸形的重要病因。     

CASE REPORT OF A 6-WEEK-OLD BOY WITH BLAND- WHITE-GARLAND SYNDROME

Bland-White-Garland syndrome is a rare syndrome with anomalous origin of the left coronary artery （ LCA ） arising from the pulmonary artery, resulting in left ventricular failure. It could occur shortly after birth. We here reported the case of a 6-week-old boy with aortostenosis. Coronary angiography revealed an anomalous LCA arising from the pulmonary artery. Representation of a prominent right coronary artery （ RCA ） delivered numerous collateral vessels to the LCA area, The patient underwent a correction operation with translocation of the LCA and re-implantation into the ascending aorta. One month after operation, clear decrease in the expanded ventricle was noted with an increase in the contractibility.     

Right Aortic Arch with Retroesophageal Left Aberrant Innominate Artery

Right aortic arch with a left retroesophageal innominate artery (type D double aortic arch) is rare. The diagnosis is made by aortography. The present case is the first known patient to undergo a magnetic resonance imaging study that outlined the anomaly clearly.